1. Gene
  2. PSMA6 - proteasome 20S subunit alpha 6 Gene

PSMA6 - proteasome 20S subunit alpha 6 Gene

Homo sapiens

Also known as IOTA; p27K; PROS27

Gene ID: 5687 | Gene type: protein coding

About PSMA6

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:35,278,558-35,317,493 (from NCBI)

This gene has 17 transcripts (splice variants), 272 orthologues, 18 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 34.7), colon (RPKM 23.0) and 25 other tissues.

Summary

The Proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave Peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified Proteasome, the immunoproteasome, is the processing of class I MHC Peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]

PSMA6 Products(4)

mRNA Protein Name
NM_001282232.1 NP_001269161.1 proteasome subunit alpha type-6 isoform b
NM_001282233.1 NP_001269162.1 proteasome subunit alpha type-6 isoform b
NM_001282234.1 NP_001269163.1 proteasome subunit alpha type-6 isoform c
NM_002791.3 NP_002782.1 proteasome subunit alpha type-6 isoform a

PSMA6 Protein Structure

Proteasome_A_N

Proteasome_A_N: Proteasome subunit A N-terminal signature (9 - 31)

Proteasome

Proteasome: Proteasome subunit (34 - 220)

  • 0
  • 100
  • 200
  • 246 a.a.
Protein Preferred Names Protein Names

proteasome subunit alpha type-6

27 kDa prosomal protein

Related Diseases

Diseases Alias
Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Combined Oxidative Phosphorylation Deficiency 8

COXPD8

Combined Oxidative Phosphorylation Defect Type 8

Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile

Cardiomyopathy Hypertrophic Mitochondrial Fatal Infantile

Combined Oxidative Phosphorylation Deficiency, Type 8

Renal Wilms' Tumor

Nonanaplastic Renal Wilm'S Tumor

Nonanaplastic Renal Wilm'S Tumour

Nonanaplastic Renal Wilms Tumor

Renal Wilms' Tumour

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Arrhythmogenic Right Ventricular Dysplasia 11

ARVD11

Arrhythmogenic Right Ventricular Cardiomyopathy 11

Arvc11

Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair

Familial Arrhythmogenic Right Ventricular Dysplasia 11

Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair

ARVD11PK

Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PSMA6 RGD RGD:61849
Felis catus PSMA6 VGNC VGNC:80877
Bos taurus PSMA6 VGNC VGNC:33441
Mus musculus PSMA6 MGD MGI:1347006
Canis familiaris PSMA6 VGNC VGNC:45091